Canonical Allele Identifier: CA697323663
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1257706214
gnomAD v4: 13-32315457-C-T
MyVariant Identifiers: chr13:g.32889594C>T (hg19) chr13:g.32315457C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315457C>T , CM000675.2:g.32315457C>T GRCh38
NC_000013.10:g.32889594C>T , CM000675.1:g.32889594C>T GRCh37
NC_000013.9:g.31787594C>T NCBI36
NG_012772.3:g.4978C>T , LRG_293:g.4978C>T
NG_017006.1:g.1498G>A
NG_017006.2:g.4907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+312C>T ENSP00000439902.1:n.-40+312C>T
XM_011535203.1:c.-40+312C>T XP_011533505.1:n.-40+312C>T
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